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Publications by Daniel G. MacArthur

Pathogenic Abnormal Splicing Due to Intronic Deletions That Induce Biophysical Space Constraint for Spliceosome Assembly

American Journal of Human Genetics

English

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture

American Journal of Human Genetics

English

The Genetic Landscape of Diamond-Blackfan Anemia

American Journal of Human Genetics

English

The Genetic Landscape of Diamond-Blackfan Anemia

American Journal of Human Genetics

English

A Respiratory Chain Controlled Signal Transduction Cascade in the Mitochondrial Intermembrane Space Mediates Hydrogen Peroxide Signaling

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Whole-Exome Sequencing Identifies Causative Mutations in Families With Congenital Anomalies of the Kidney and Urinary Tract

Journal of the American Society of Nephrology : JASN

English

Correction: Insights Into the Genetic Epidemiology of Crohn's and Rare Diseases in the Ashkenazi Jewish Population

Molecular Biology

Cancer Research

English

Quantifying Genetic Regulatory Variation in Human Populations Improves Transcriptome Analysis in Rare Disease Patients

English

ACTN3 Genotype Is Associated With Human Elite Athletic Performance

American Journal of Human Genetics

English